Bronchoalveolar disease in dyskeratosis congenita

Dyskeratosis congenita (DC) is an unusual familial disorder primarily affecting the skin and its appendages. We report the case of a DC patient with chronic respiratory tract involvement, confirming the features previously reported by a small number of authors: 1) chronic bronchoalveolar involvement is not unusual in this disorder; 2) the main features are early sputum production with subsequent bronchial and alveolar destruction; 3) after onset of dyspnoea the course is rapidly fatal, with progressive respiratory failure. Immune deficiency and repeated bronchoalveolar infections may be involved in the pathogenesis of these manifestations.

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				W F Safa, G G Lestringant, and P M Frossard X-linked dyskeratosis congenita: restrictive pulmonary disease and a novel mutation Thorax, November 1, 2001; 56(11): 891 - 894. [Abstract] [Full Text] [PDF]